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Precision medicine is redefining what’s possible in pediatric cancer care. At Hospital de Amor in São Paulo, Brazil, clinicians are using genomic profiling research to reveal valuable insights for young patients facing aggressive tumors. Gustave Ramos Teixeira, M.D. shared with us the story of one such case, where next-generation sequencing (NGS) revealed a key genetic fusion that changed the course of care.
An infant was referred to Hospital de Amor with a suspected malignant brain tumor. Imaging revealed a 5 cm mass, which was surgically removed by the hospital’s neurosurgery team. Laboratory analysis confirmed a high-grade glioma, an aggressive cancer with a median overall survival of 14–20 months after optimal therapy1.
To explore potential alternative treatment options, the team performed NGS to identify possible gene fusions, as these tumors in young patients are often associated with kinase alterations. The analysis – powered by a solid tumor solution on the SOPHiA DDM™ Platform – identified a specific kinase receptor fusion, uncovering impactful insights that could provide support to the patient’s future care journey.
The child has remained healthy and free of neurological complications for four years, without the need for additional surgeries or a different chemotherapy approach. This case highlights how world-class algorithms, real-time insights, and the collective intelligence of the SOPHiA GENETICS community can help support better outcomes for patients.
1. Hatoum R, et al. JAMA Netw Open. 2022;5(8):e2226551.
SOPHiA GENETICS products are for Research Use Only (RUO) and not for use in diagnostic procedures, unless specified otherwise. Clinical interpretation and patient management decisions are the sole responsibility of qualified healthcare professionals. Patient case shared with permission and anonymized for educational purposes.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
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